All terms in DOID

Label Id Description
PHGDH deficiency DOID_0050722 [A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.]
PSPH deficiency DOID_0050724 [A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.]
PSAT deficiency DOID_0050723 [A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid.]
tyrosinemia type I DOID_0050726 [A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.]
tyrosinemia type II DOID_0050725 [A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.]
renal glomerulus UBERON_0000074
male reproductive system UBERON_0000079
Dysharmonic delayed bone age HP_0005832
membrane organ UBERON_0000094
sulcus UBERON_0000093
urofacial syndrome DOID_0050816 [A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.]
obsolete eye adnexa disease DOID_0050815 [An eye and adnexa disease that is located_in the adnexa of the eye.]
transcobalamin II deficiency DOID_0050818 [A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII.]
Stargardt disease DOID_0050817 [An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.]
obsolete Matthew-Wood syndrome DOID_0050819 [A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.]
biotin deficiency DOID_0050810 [A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth.]
Vibrio NCBITaxon_662
Vibrionaceae NCBITaxon_641
spondyloepimetaphyseal dysplasia, Pakistani type DOID_0050812 [A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.]
congenital adrenal hyperplasia DOID_0050811 [A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.]